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Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta

✍ Scribed by Sandra Janeth Gutierrez; Margarita Chaves; Diana M. Torres; Ignacio Briceño


Book ID
113465865
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
500 KB
Volume
52
Category
Article
ISSN
0003-9969

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Identification of a nonsense mutation in
✍ Michael J. Aldred; Peter J. M. Crawford; Enriqueta Roberts; Nicholas S. T. Thoma 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 625 KB

A family with X-linked amelogenesis imperfecta (XAI) is described in which the disease is associated with a nonsense mutation in exon 5 of the amelogenin gene. This mutation involves a single base deletion (CCCC-->CCC) in the exon in an affected male, his sister and his mother. The effect of this de